Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: Case report

Thomas L. Beaumont, Jakub Godzik, Sonika Dahiya, Matthew D. Smyth

Research output: Contribution to journalArticlepeer-review

17 Scopus citations

Abstract

The authors report the case of a 14-year-old male with a subependymal giant cell astrocytoma (SEGA) that occurred in the absence of tuberous sclerosis complex (TSC). The patient presented with progressive headache and the sudden onset of nausea and vomiting. Neuroimaging revealed an enhancing left ventricular mass located in the region of the foramen of Monro with significant mass effect and midline shift. The lesion had radiographic characteristics of SEGA; however, the diagnosis remained unclear given the absence of clinical features of TSC. The patient underwent grosstotal resection of the tumor with resolution of his symptoms. Although tumor histology was consistent with SEGA, genetic analysis of both germline and tumor DNA revealed no TSC1/2 mutations. Similarly, a comprehensive clinical evaluation failed to reveal any clinical features characteristic of TSC. Few cases of SEGA without clinical or genetic evidence of TSC have been reported. The histogenesis, genetics, and clinical approach to this rare lesion are briefly reviewed.

Original languageEnglish
Pages (from-to)134-137
Number of pages4
JournalJournal of Neurosurgery: Pediatrics
Volume16
Issue number2
DOIs
StatePublished - Aug 2015

Keywords

  • Mosaicism
  • Oncology
  • SEGA
  • Subependymal giant cell astrocytoma
  • TSC
  • Tuberous sclerosis complex

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